Canonical Allele Identifier: CA362161701
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233026C>G , CM000667.2:g.173233026C>G GRCh38
NC_000005.9:g.172660029C>G , CM000667.1:g.172660029C>G GRCh37
NC_000005.8:g.172592635C>G NCBI36
NG_013340.1:g.7287G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.518G>C MANE Select ENSP00000327758.4:p.Ser173Thr
ENST00000329198.4:c.518G>C ENSP00000327758.4:p.Ser173Thr
ENST00000424406.2:c.*471G>C ENSP00000395378.2:n.*471G>C
ENST00000521848.1:c.*317G>C ENSP00000427906.1:n.*317G>C
NM_001166175.1:c.*471G>C NP_001159647.1:n.*471G>C
NM_001166176.1:c.*317G>C NP_001159648.1:n.*317G>C
NM_004387.3:c.518G>C NP_004378.1:p.Ser173Thr
NM_004387.4:c.518G>C MANE Select NP_004378.1:p.Ser173Thr
NM_001166175.2:c.*471G>C NP_001159647.1:n.*471G>C
NM_001166176.2:c.*317G>C NP_001159648.1:n.*317G>C